Dyskeratosis Congenita With Corneal Limbal Insufficiency


ASLAN D., ÖZDEK Ş., Camurdan O., BİDECİ A., CİNAZ P.

PEDIATRIC BLOOD & CANCER, vol.53, no.1, pp.95-97, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 53 Issue: 1
  • Publication Date: 2009
  • Doi Number: 10.1002/pbc.21960
  • Journal Name: PEDIATRIC BLOOD & CANCER
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.95-97
  • Keywords: dyskeratosis congenita, limbal insufficiency, stem cell, telomere length, MARROW FAILURE SYNDROMES, STEM-CELLS, TELOMERE MAINTENANCE, BLOOM-SYNDROME, DISORDER
  • Gazi University Affiliated: Yes

Abstract

We describe a newly diagnosed Turkish adolescent female with Dyskeratosis congenita along with the novel ocular finding of corneal limbal insufficiency. Corneal limbal insufficiency was suggested to be a premature aging sign resulting from a deficiency in corneal stein cell activity, a biological process caused by underlying telomeric defect in this disease. Pediatr Blood Cancer 2009;53:95-97. (C) 2()09 Wiley-Liss, Inc.